Introduction
TRIP12 disorder or TRIP12-related disorder coincides with changes to the TRIP12 gene that alter its function. The disorder is associated with epilepsy and autism and is a relatively rare disorder that in 2020 had only seen 24 cases in medical research.
What is TRIP12?
TRIP12 is a gene that maintains the basic function of the cell and plays a key role in development. It is a thyroid hormone receptor interactor that acts as a ubiquitin ligase. The disorder results from a nonsense mutation that replaces a cysteine with an alanine in the primary structure of the protein it encodes for that eliminates the protein's ligase activity.
Causes
- "De Novo" mutation
- A random mutation in the egg or sperm cells
- The allele for TRIP12 syndrome is dominant so only one allele mutation is required (one parent’s egg or sperm cell to be mutated)
- There is still ongoing research delving into this relatively unknown syndrome.
Statistics
- 70% of those with TRIP12 disorder are also autistic
- 100% of those tested with TRIP12 syndrome were shown to have had a speech delay
- 66% show motor delay
- 75% show other behavioral anomalies
There are new variants of the disorder being found with new research and cases across the world. There is a lot to uncover with this genetic disorder and new information is always welcome from readers like you. Contact us if there is anything you would like to add or learn about in upcoming blogs or a continuation of this one!
Discussion Questions
- How does educating ourselves about disorders like TRIP12 disorder help bring a voice to autistic individuals?
- What other ASD-related disorders have you heard or learned about recently?
Share your thoughts in the comments below and thank you for taking the time to learn a little something today! I hope you guys have an amazing Week 1!
- Shreyas Mytri (Co-Outreach Director)
